MED and Pseudoachondroplasia genes (Homo sapiens)

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1Collagen IIMATN1COL9A1COMPCOL9A2COL9A3MATN3COL9A1COL9A2COL9A3Collagen IICOL9A1COL9A2COL9A3COMPCOL9A1COL9A2COL9A3COL9A1COL9A2COL9A3COL9A1COL9A2COL9A3MATN1MATN3Collagen IIOMIM:614284Stickler Syndrome, Type VOMIM:177170PseudoachondroplasiaOMIM:614134Stickler Syndrome, Type IVOMIM:120270Collagen, Type IX, Alpha-3OMIM:607078Epiphyseal Dysplasia, Multiple, 5OMIM:614135Epiphyseal Dysplasia, Multiple, 6OMIM:608728Spondyloepimetaphyseal Dysplasia, Matrilin-3 RelatedOMIM:132400Epiphyseal Dysplasia, Multiple, 1OMIM:600204Epiphyseal Dysplasia, Multiple, 2OMIM:600969Epiphyseal Dysplasia, Multiple, 3


Description

Taken from Genetic mouse models for the functional analysis of the perifibrillar components collagen IX, COMP and matrilin-3: Implications for growth cartilage differentiation and endochondral ossification by Frank Zaucke and Susanne Grässel [1].

The mutual interaction of the two supramolecular compartments, the fibrillar and extrafibrillar matrix is a prerequisite for stability and integrity of the cartilage extracellular matrix. The fibrillar periphery, composed of collagen IX, matrilins and cartilage oligomeric matrix protein (COMP) among other components, constitutes the interface which mediates interactions between the two compartments. Mutations in these peripheral macromolecules cause a broad spectrum of skeletal conditions such as pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED), which severely affect the organization and integrity of the cartilage growth matrix in humans.

Model for supramolecular assembly of cartilage fibrils and filaments into fibrillar networks: Matrilin-3 and COMP act as adaptor molecules to interconnect D-periodically banded fibrils with each other and/or with collagen VI beaded filaments to generate a heterotypic fibrillar network. The interaction may be mediated either by matrilin-1 / -3 binding directly to collagen IX or via COMP, which associates with the NC domains of collagen IX.

Linked with a dotted arrow to the GeneProduct nodes are diseases caused by mutation in the respective gene.

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Ontology Terms

 

Bibliography

  1. Zaucke F, Grässel S; ''Genetic mouse models for the functional analysis of the perifibrillar components collagen IX, COMP and matrilin-3: Implications for growth cartilage differentiation and endochondral ossification.''; Histol Histopathol, 2009 PubMed Europe PMC

History

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CompareRevisionActionTimeUserComment
109081view09:44, 16 February 2020FehrhartOntology Term : 'pseudoachondroplasia' added !
109080view09:44, 16 February 2020FehrhartOntology Term : 'disease pathway' added !
108992view00:44, 13 February 2020Khansperschanged board size
108836view01:08, 1 February 2020RleeModified description
108835view01:07, 1 February 2020RleeRemoved extra DataNode
108834view01:05, 1 February 2020RleeNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
COL9A1GeneProductENSG00000112280 (Ensembl)
COL9A2GeneProductENSG00000049089 (Ensembl)
COL9A3GeneProductENSG00000092758 (Ensembl)
COMPGeneProductENSG00000105664 (Ensembl)
MATN1GeneProductENSG00000162510 (Ensembl)
MATN3GeneProductENSG00000132031 (Ensembl)

Annotated Interactions

No annotated interactions

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